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Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization
L V Muscatello1, C Benazzi1, K E Dittmer2
1DIMEVET, University of Bologna, Ozzano dell'Emilia, Bologna, Italy.
Veterinary Pathology
|June 17, 2015
Summary
Ellis-van Creveld syndrome in cattle, caused by EVC2 gene mutations, results in dwarfism and skeletal defects. This study identifies it as a chondrocyte differentiation disorder, offering a model for human disease.
Area of Science:
- Genetics and Developmental Biology
- Veterinary Pathology
- Skeletal Dysplasias
Background:
- Ellis-van Creveld (EvC) syndrome is an autosomal recessive human disorder linked to mutations in EVC or EVC2 genes.
- It is characterized by short limbs, polydactyly, ectodermal, and heart defects.
Purpose of the Study:
- To elucidate the pathological mechanisms of EVC2 gene deletions causing chondrodysplastic dwarfism.
- To characterize the morphological, immunohistochemical, and molecular features of EvC syndrome in cattle.
Main Methods:
- Autopsy of five Grey Alpine calves with known EVC2 gene mutations.
- Immunohistochemistry for collagen II, collagen X, sonic hedgehog, FGF2, and Ki67 on bone tissue.
- Reverse transcription polymerase chain reaction for EVC1 and EVC2 gene expression analysis.
Main Results:
- Affected calves exhibited severely shortened long bones and congenital heart and genital defects.
- Loss of collagen II in the resting zone and absence of collagen X in the hypertrophic zone of growth plates were observed.
- Fibroblast growth factor 2 (FGF2) expression was reduced, and the Ki67 proliferation index was lower in affected calves.
Conclusions:
- EvC syndrome in Grey Alpine cattle is a disorder of chondrocyte differentiation, marked by accelerated differentiation and premature hypertrophy.
- This cattle model provides insights into the pathogenesis of human EvC syndrome.
